A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia-Reference-Cited by-同舟云学术

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A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

Published:2012-11-26 Issue:1 Volume:43 Page:72-78
ISSN:0014-2972
Container-title:European Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Caridi Gianluca,Dagnino Monica,Lugani Francesca,Shalev Stavit A.,Campagnoli Monica,Galliano Monica,Spiegel Ronen,Minchiotti Lorenzo

Publisher

Wiley

Subject

Clinical Biochemistry,Biochemistry,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/eci.12019/fullpdf

Reference29 articles.

1. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4;Minghetti;J Biol Chem,1986

2. Mutations and polymorphisms of the gene of the major human blood protein, serum albumin;Minchiotti;Hum Mutat,2008

3. A novel splicing mutation causes analbuminemia in a Portuguese boy;Caridi;Mol Genet Metab,2012

4. Influence of methodology on the detection and diagnosis of congenital analbuminemia;Lyon;Clin Chem,1998

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1. Performance evaluation of different albumin assays for the detection of analbuminemia;PLOS ONE;2024-03-06

2. Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis;Annales de Biologie Clinique;2023-04

3. Alterations in the Plasma Protein Expression Pattern in Congenital Analbuminemia—A Systematic Review;Biomolecules;2023-02-22

4. Progress and Challenges in the Biology of FNDC5 and Irisin;Endocrine Reviews;2021-01-25

5. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases;Acta Neuropathologica;2019-12-09

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